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An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission

BACKGROUND: APECED is a syndrome characterized by autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy. The most observed clinical findings are chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenal insufficiency. Case Presentation. A three-year-old male patien...

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Autores principales: Aytac, Gulcin, Guven, Burcu, Aydin, Ilyas, Topyildiz, Ezgi, Aykut, Ayca, Durmaz, Asude, Edeer Karaca, Neslihan, Aksu, Guzide, Kutukculer, Necil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10154083/
https://www.ncbi.nlm.nih.gov/pubmed/37144156
http://dx.doi.org/10.1155/2023/2363760
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author Aytac, Gulcin
Guven, Burcu
Aydin, Ilyas
Topyildiz, Ezgi
Aykut, Ayca
Durmaz, Asude
Edeer Karaca, Neslihan
Aksu, Guzide
Kutukculer, Necil
author_facet Aytac, Gulcin
Guven, Burcu
Aydin, Ilyas
Topyildiz, Ezgi
Aykut, Ayca
Durmaz, Asude
Edeer Karaca, Neslihan
Aksu, Guzide
Kutukculer, Necil
author_sort Aytac, Gulcin
collection PubMed
description BACKGROUND: APECED is a syndrome characterized by autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy. The most observed clinical findings are chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenal insufficiency. Case Presentation. A three-year-old male patient was admitted with classical signs of juvenile idiopathic arthritis and treated with nonsteroidal anti-inflammatory drugs. During follow-up, signs of autoimmunity, candidiasis, nail dystrophy, and onychomycosis were observed. The parents were consanguineous, and targeted next-generation sequencing was performed. A homozygous mutation in the AIRE gene SAND domain (c.769C > T, p.Arg257Ter) was detected, and the patient was diagnosed with APECED syndrome. CONCLUSION: Inflammatory arthritis is rarely described in association with APECED and is often misdiagnosed as juvenile idiopathic arthritis. In APECED cases, nonclassical symptoms such as arthritis may occur before developing classical symptoms and considering the diagnosis of APECED in patients with CMC and arthritis is useful for early diagnosis before development of complications and management of disease.
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spelling pubmed-101540832023-05-03 An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission Aytac, Gulcin Guven, Burcu Aydin, Ilyas Topyildiz, Ezgi Aykut, Ayca Durmaz, Asude Edeer Karaca, Neslihan Aksu, Guzide Kutukculer, Necil Case Reports Immunol Case Report BACKGROUND: APECED is a syndrome characterized by autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy. The most observed clinical findings are chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenal insufficiency. Case Presentation. A three-year-old male patient was admitted with classical signs of juvenile idiopathic arthritis and treated with nonsteroidal anti-inflammatory drugs. During follow-up, signs of autoimmunity, candidiasis, nail dystrophy, and onychomycosis were observed. The parents were consanguineous, and targeted next-generation sequencing was performed. A homozygous mutation in the AIRE gene SAND domain (c.769C > T, p.Arg257Ter) was detected, and the patient was diagnosed with APECED syndrome. CONCLUSION: Inflammatory arthritis is rarely described in association with APECED and is often misdiagnosed as juvenile idiopathic arthritis. In APECED cases, nonclassical symptoms such as arthritis may occur before developing classical symptoms and considering the diagnosis of APECED in patients with CMC and arthritis is useful for early diagnosis before development of complications and management of disease. Hindawi 2023-04-25 /pmc/articles/PMC10154083/ /pubmed/37144156 http://dx.doi.org/10.1155/2023/2363760 Text en Copyright © 2023 Gulcin Aytac et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Aytac, Gulcin
Guven, Burcu
Aydin, Ilyas
Topyildiz, Ezgi
Aykut, Ayca
Durmaz, Asude
Edeer Karaca, Neslihan
Aksu, Guzide
Kutukculer, Necil
An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission
title An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission
title_full An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission
title_fullStr An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission
title_full_unstemmed An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission
title_short An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission
title_sort extraordinary case of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (apeced) syndrome misdiagnosed as juvenile idiopathic arthritis on admission
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10154083/
https://www.ncbi.nlm.nih.gov/pubmed/37144156
http://dx.doi.org/10.1155/2023/2363760
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